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Article

Noninvasive prenatal diagnosis for pregnancies at risk for β-thalassaemia: a retrospective study.

BJOG : an international journal of obstetrics and gynaecology - 1 Jan 2021

Lv W, Linpeng S, Li Z, Liang D, Jia Z, Meng D, Cram D S, Zhu H, Teng Y, Yin A, Wu L

Abstract excerpt

OBJECTIVE: To evaluate the clinical feasibility of noninvasive prenatal diagnosis (NIPD) for β-thalassaemia using circulating single molecule amplification and re-sequencing technology (cSMART). DESIGN: Through carrier screening, 102 pregnant Chinese couples carrying pathogenic HBB gene variants were recruited to the study. Pregnancies were managed using traditional invasive prenatal diagnosis (IPD)....

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PMID: 32363759
DOI: 10.1111/1471-0528.16295

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